Sökning: "Chromosomal rearrangements"

Visar resultat 21 - 25 av 49 avhandlingar innehållade orden Chromosomal rearrangements.

  1. 21. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

    Författare :Hammurabi Bartuma; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

    Sammanfattning : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. LÄS MER

  3. 22. Genome dynamics and virulence in the human pathogen Candida glabrata

    Författare :Khadija Mohamed Ahmad; Molekylär cellbiologi; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Pathogenic yeast; Candida glabrata; small chromosomes; Genome rearrangement; Haploid and diploid yeast; RNA interference.;

    Sammanfattning : Although the yeast Candida glabrata is considered to be a part of the commensal microflora in healthy individuals, during the last years it has been frequently isolated from patients with mucosal and systemic fungal infections. Now it is considered as the second most frequently isolated pathogenic yeast after Candida albicans. Despite its name, C. LÄS MER

  4. 23. Ultrasensitive Molecular Monitoring of Breast Cancer and Acute Myeloid Leukemia

    Författare :Yilun Chen; Translational Oncogenomics; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; AML; PTEN; PI3K; Liquid biopsy; Sequencing; cfDNA; ctDNA; Structural variants; Mammography; CTC; Mutation detection; IBSAFE; MRD;

    Sammanfattning : Cancer is the common name to a group of biologically diverse malignant neoplastic diseases. Approximately 18 million people are diagnosed with cancer annually and 8.8 million patients die from it. Tumorigenesis and progression of cancer are driven by alterations in the cancer cell genome. LÄS MER

  5. 24. Clinical and molecuar studies of papillary thyroid carcinoma : with an emphasis on prognostic factors

    Författare :Petra Kjellman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Papillary thyroid carcinoma; MIB-1; RET-proto-oncogene; RET PTC; CGH; prognosis;

    Sammanfattning : Thyroid cancer accounts for approximately 1% of all cancers reported. In Sweden 45/100, 000 inhabitants annually present with thyroid carcinoma. There are four different variants of thyroid carcinoma: papillary thyroid carcinoma (PTC), follicular thyroid carcinoma, medullary thyroid carcinoma and anaplastic thyroid carcinoma. LÄS MER

  7. 25. Study on the Function of Translation Initiation Factor IF1

    Författare :Victor Croitoru; Leif A. Isaksson; Kim Kusk Mortensen; Stockholms universitet; []
    Nyckelord :translation; initiation factor IF1; mutagenesis; A-site; RNA chaperone; NATURAL SCIENCES; NATURVETENSKAP;

    Sammanfattning : Initiation is the first step in protein biosynthesis representing a fundamental event in cell life which determines fidelity, efficiency and regulation of gene expression. In addition to the ribosome and mRNA, three protein factors IF1, IF2 and IF3 are involved in the initiation of translation in prokaryotes. LÄS MER